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Apert Syndrome
Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first Pharyngeal arch, branchial (or pharyngeal) arch, the precursor of the maxilla and Human mandible, mandible. Disturbances in the development of the branchial arches in fetal development create lasting and widespread effects. In 1906, Eugène Apert, a French physician, described nine people sharing similar attributes and characteristics. Linguistically, in the term "acrocephalosyndactyly", ''acro'' is Greek language, Greek for "peak", referring to the "peaked" head that is common in the syndrome; ''cephalo'', also from Greek, is a combining form meaning "head"; ''syndactyly'' refers to webbing of fingers and toes. In embryology, the hands and feet have selective cells that die in a process called selective cell death, or apoptosis, causing separation of the digits. In the case ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
FGFR2
Fibroblast growth factor receptor 2 (FGFR-2) also known as CD332 (cluster of differentiation 332) is a protein that in humans is encoded by the ''FGFR2'' gene residing on chromosome 10. FGFR2 is a receptor for fibroblast growth factor. FGFR-2 is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin domains, a single hydrophone, hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and cellular differentiation, differentiation. This particular family member is a high-affinity receptor for acidic, basic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Trigonocephaly
Trigonocephaly is a congenital condition due to premature Synostosis, fusion of the metopic suture (), leading to a triangular forehead. The premature merging of the two frontal bones leads to transverse growth restriction and parallel growth expansion. It may occur as one component of a syndrome together with other abnormalities, or in isolated form. The term is . Cause Trigonocephaly can either occur in a syndrome or isolated, all by itself. Trigonocephaly is associated with the following syndromes: Bohring-Opitz syndrome, Muenke syndrome, Jacobsen syndrome, Baller–Gerold syndrome and Say–Meyer syndrome. The etiology of trigonocephaly is mostly unknown although there are three main theories. Trigonocephaly is probably a multifactorial congenital condition, but due to limited proof of these theories this cannot safely be concluded. Intrinsic bone malformation The first theory assumes that the origin of pathological synostosis lies within disturbed bone formation early on ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Hand In Apert Syndrome (1)
A hand is a prehensile, multi-fingered appendage located at the end of the forearm or forelimb of primates such as humans, chimpanzees, monkeys, and lemurs. A few other vertebrates such as the koala (which has two opposable thumbs on each "hand" and fingerprints extremely similar to human fingerprints) are often described as having "hands" instead of paws on their front limbs. The raccoon is usually described as having "hands" though opposable thumbs are lacking. Some evolutionary anatomists use the term ''hand'' to refer to the appendage of digits on the forelimb more generally—for example, in the context of whether the three digits of the bird hand involved the same homologous loss of two digits as in the dinosaur hand. The human hand usually has five digits: four fingers plus one thumb; however, these are often referred to collectively as five fingers, whereby the thumb is included as one of the fingers. It has 27 bones, not including the sesamoid bone, the number of w ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Coronal Sutures
The coronal suture is a dense, fibrous connective tissue joint that separates the two parietal bones from the frontal bone of the skull. Structure The coronal suture lies between the paired parietal bones and the frontal bone of the skull. It runs from the pterion on each side. Nerve supply The coronal suture is likely supplied by a branch of the trigeminal nerve. Development The coronal suture is derived from the paraxial mesoderm. Clinical significance If certain bones of the skull grow too fast then premature fusion of the sutures, craniosynostosis, may occur. This can result in skull deformities. These deformities include: * Brachycephaly (both sides) * Plagiocephaly (one side only) * Oxycephaly (both sides) References * "Sagittal suture." ''Stedman's Medical Dictionary, 27th ed.'' (2000). * Moore, Keith L., and T.V.N. Persaud. ''The Developing Human: Clinically Oriented Embryology, 7th ed.'' (2003). Additional images File:Coronal suture - animation04.gi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Brachycephaly
Brachycephaly (derived from the Ancient Greek '' βραχύς'', 'short' and '' κεφαλή'', 'head') is the shape of a skull shorter than average in its species. It is perceived as a cosmetically desirable trait in some domesticated dog and cat breeds, notably the pug and Persian, and can be normal or abnormal in other animal species. In humans, brachycephaly can appear both pathologically and non-pathologically as a result of normal human variation. It is particularly common in Mongolians and the Andamanese. In anthropology, human populations have been characterized as either dolichocephalic (long-headed), mesocephalic (moderate-headed), or brachycephalic (short-headed). The usefulness of the cephalic index was questioned by Giuseppe Sergi, who argued that cranial morphology provided a better means to model racial ancestry. When pathological, it is known as flat head syndrome, and it results from premature fusion of the coronal sutures, or from external deformation. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Incidence (epidemiology)
In epidemiology Epidemiology is the study and analysis of the distribution (who, when, and where), patterns and Risk factor (epidemiology), determinants of health and disease conditions in a defined population, and application of this knowledge to prevent dise ..., incidence reflects the number of new cases of a given medical condition in a population within a specified period of time. Incidence proportion Incidence proportion (IP), also known as cumulative incidence, is defined as the probability that a particular event, such as occurrence of a particular disease, has occurred in a specified period: Incidence = \frac For example, if a population contains 1,000 persons and 28 develop a condition from the time the disease first occurred until two years later, the cumulative incidence is 28 cases per 1,000 persons, i.e. 2.8%. Incidence rate The incidence rate can be calculated by dividing the number of subjects developing a disease by the total time at risk from all patie ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
